RHD*08N.01 - RHD*Pseudogene
(ISBT table: RHD negative v4.0)
This entry is an RHD allele.
D pseudogene, D psi, DΨ, RHD*487-19dupl37,609A,654C,667G,674T,807G, RHD*Dpsi (RHD*08N.01),
Molecular data
Nucleotides:
intronic 487>; intronic 609G>A; intronic 654G>C; intronic 667T>G; intronic 674C>T; 807T>G;
Amino acids: M169Lfs*41; 0; 0; 0; 0; Y269*;
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
- authors hypothesize that this may be the same allele as RHef00779
- does not list c.609G>A
- proposes a strategy for the detection of RHef00447 based on a real-time polymerase chain reaction (PCR) assay
- no mRNA transcripts with the Dpsi sequence
- polymorphism IVS6+28C>T in all samples
Extracellular position of one or more amino acid substitutions:
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: D negative (DEL excluded) (last update: Aug. 9, 2020)Reports by D phenotype
- Undetailed ambiguous D phenotype
- Adsorption-elution was performed, with unexplained DEL phenotype findings; overlaps with
999999988 , may overlap with19243542 - D negative
- Adsorption-elution was performed, with unexplained DEL phenotype findings; overlaps with
999999988 , may overlap with19243542
Other RH phenotypes: RH:-2, -3,
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: ce (last update: Jan. 8, 2021)ce | Ce | cE | CE | |
---|---|---|---|---|
ce | 316 | 55 | 8 | 0 |
Ce | 0 | 1 | 0 | |
cE | 0 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
- with ce 7 samples (haplotype given, not complete phenotype) (study may overlap with
- with Ccee 1 sample (study may overlap with
- with ccEe 1 sample
- with CcEe 1 sample (sample heterozygous with RHef00452)
17 samples (study may overlap with
26 samples
1 sample
46 samples
8 samples
2 samples
13 samples
14 samples (14 samples, haplotype given, not patient phenotypes)
3 samples
78 samples (haplotype given, not complete phenotype)
28 samples
10 samples (including one heterozygous with RHef00651)
63 samples
0 samples (Figure 2; presented as a general association, no sample count) (Figure 2; presented as a general association, no sample count)
11 samples (11 samples, in trans with RHef00605)
15 samples
2 samples
16 samples
10 samples
3 samples
4 samples
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: D negative, at risk for anti-D (last update: Aug. 25, 2020)Detailed information
-
Singleton BK et al. Blood (2000)
- Ab specificity: D (RH1)
- Number (auto- or allo-):
- Number listed as allo-: 4
- Number listed as auto-:
- Number of carriers of the allele assessed: 82 (number not clear)
- DAT:
- Autologuous control:
- Elution:
- Autoadsorption:
- Titer:
- Was anti-LW excluded?:
- Other antibodies detected:
- Cross matches (with Ab and RBCs from different partial types):
- Transfusion history:
- Pregnancy history:
- Anti-D Ig history:
- Context:
- Hemolytic consequences: 1 case of HDN which required exchange transfusion
- Comment:
Antibodies in D negative recipients
Alloimmunization in recipients: not expected, see phenotype data
Reports
Summary: common allele, mainly in D negative individuals of African descent, or compatible with such descent (last update: Aug. 9, 2020)Detailed reports
- 21/34 donors with D negative phenotype typed for the presence of RHD exon 10 and intron 4 Ghanaian
- 20/29 donors with D negative phenotype, typed for the presence of RHD exon 10 and intron 4 Black South African
- 13/54 donors with D negative phenotype, typed for the presence of RHD exon 10 and intron 4 African American
- 0/13 donors with D positive phenotyope, typed for the presence of RHD exon 10, intron 4 and D psi specific 37 bp insertion Caucasian, reported by a team of authors from UK, USA, South Africa, Ghana, Zimbabwe
- 13/19 donors with D negative phenotype, typed for the presence of RHD exon 10 and intron 4 Zimbabwean
- 7/41 donors with D negative phenotype, typed for the presence of RHD exon 10 and intron 4 Mixed race South African
-
12/95 (heterozygous) donors with D positive phenotype typed for the presence of RHD exon 10, intron 4 and D psi specific 37 bp insertion Black South African
(some samples overlap with
9024488 ) - 1/8442 8442 donors with D negative phenotype, screened for presence of the RHD gene in two surveys; 754 donors were C and/or E positive, the rest were ccee phenotype; 5 donors were revealed to be weakly D positive in the German population, Baden-Wurttemberg
- 7/58 random donors carrying the allele (regardless of the allele in trans) Malian
- 1/310 (heterozygous with RHef00059) among 1702 samples tested for the combined presence of RHD c.602G and c.667G (700 Dutch White, 310 South African Black, 319 South African Asians, 197 Curacao Black, 176 Ethiopian Black) South African, Black
-
3/167 (heterozygous with RHef00003) among 1702 samples tested for the combined presence of RHD c.602G and c.667G (700 Dutch White, 310 South African Black, 319 South African Asians, 197 Curacao Black, 176 Ethiopian Black) South African (Black) or Curacao (Black) or Ethiopian (Black)
(some samples overlap with
10590079 ) - 9/2012 2012 serologicaly D negative mothers, fetal genotyping showed some RHD gene in 26 in Portuguese population
- 1/1113 pregnant D negative women tested for fetal non invasive genotyping, RHD exons 5 and 7 in the German population
- 3/23330 donor samples with D negative phenotype, tested for RHD exons 4, 7 and 10 (94 were PCR positive, 74 weak D or DEL in subsequent serologic analysis) in the Austrian population, Upper Austria
- 14/96 among almost 3 million blood donations, 621685 had D negative phenotype; 46133 donors were first time donors with D negative phenotype and, when tested, 96 had RHD intron 4 in the German population
- 31/110 (3 samples heterozygous with RHef00605) random individuals with D negative phenotype Congolese, city of Brazzaville
- 2/10 (1 heterozygous with RHef00442, 1 with RHef00008) individuals with D positive phenotype Bantu, subgroup Teke, Boma from villages in the north of Léfini river
- 2/10 (1 heterozygous with RHef00022 and 1 with RHef00023) individuals with D positive phenotype Bantu, subgroup Teke, Wumu from villages in the south of Ngabé city
- 2/60 (0/21 donors; 2/39 patients, heterozygous with RHef00058) among 60 individuals (21 donors, 39 patients) phenotyped as RH:54 and/or submitted for investigation to determine the RH genotype in the USA population (inferred African American)
- 1/11 pregnant women with ambiguous fetal genotyping in French population
- 1/141 donors and patients with ambiguous D phenotype in French population
- 1/25 (heterozygous with RHef00313) donors with "weak D or questionnable D status" explored by NGS to compare with Sanger sequencing in the Austrian population, Upper Austria
- 11/239 (+2 heterozygous, one with RHef00452, and one with RHef00658) among 2007 unrelated donors, 239 with D negative phenotype, were tested for RHD Intron 4 and Exon 10 in the Brazilian population, mainly racially mixed non-white skin color individuals, Sao Paulo
- 2/448 448 donors with D negative phenotype, tested for the presence of RHD exon 10 in the Tunisian population
- 78/101 among 2450 donors with D negative phenotype, tested for RHD specific polymorphisms (101 were positive for the polymorphisms) Brazilian (Southeast and Northeast Brazil)
- 2 samples heterozygous with RHef00442 random donors with D positive phenotype, included for the development of a genotyping assay in the Dutch population
- 46 samples samples positive for this allele, obtained from the screening program of D negative pregnant women in the Dutch population
- 1 sample (heterozygous with RHef00602) SCD patients with Ab in the USA population, Illinois
- 12 alleles in 226 patients SCD children systematically genotyped in an alloimmunization study in the USA population, Philadelphia
- 34/316 (7 homo- or hemizygous, 1 heterozygous with RHef00452, 2 with RHef00018, 2 with RHef00313, 1 with RHef0000067, 1 with RHef00058, 1 with RHef00093, 1 with RHef00020, 18 with RHef00442) 316 (280 D positive and 36 D negative) donors were genotyped African descent (FY:-1,-2) in the French population
- 1/127 the cohort was composed of 77 Tswa from Congo, 36 Biaka from Central African Republic, 14 Mbuti from Democratic Republic of the Congo Pygmoid Central African
- 22/220 the cohort was composed of 164 Teke-Congolese (ethnic groups: 60 Akwa, 52 Mbochi, 52 Kuyu) from Congo, 19 Mandenka from Senegal, 25 Yoruba from Nigeria, 12 Bantu from Kenya Nonpygmoid Central African
-
8/26243 donors with D negative phenotype in three studies with different inclusion criteria in the Swiss population (Zurich and Berne)
(study may overlap with
24679597 ) -
17/25370 donors with D negative phenotype, screened for RHD exons 3 or 7, plus 5 and 10 in the Swiss population
(study may overlap with
24656493 ) - 8/1314 samples with apparent D negative phenoytpe White Argentineans
- 1/67 (heterozygous with RHef00442) among 405 random donor samples used to evaluate RHD zygosity tests (35 typed D negative, 303 typed D positive, 67 of the latter had discordant results with different methods and were sequenced) in the Tunisian population
- 1/3526 donors with D negative phenotype Japanese
- 118/37782 (1 heterozygous with RHef00448, 1 heterozygous with RHef00660, 13 heterozygous with RHef00452, 6 homozygous) 270 women with variant alleles among 37782 women with D negative phenotype, tested by quantitative fetal RHD genotyping designed to detect RHD exons 5 and 7 in the Dutch population
- 3/298 pregnant D negative women who underwent non-invasive fetal RHD detection in the Argentinean population (Rosario)
- 4/400 among random blood and bone marrow donors genotyped for RHD in the Brazilian population (Parana state, Southern Brazil)
- 1/662 among 662 pregnant patients with apparent D negative phenotype, enroled for fetal genotyping Mexican, in the Australian population
- 17/405 donors with D negative phenotype, C and/or E and RHD gene present Brazilian
- 4/289 (3 heterozygous, probably with RHef00442) random donors, see 22021456 for estimation of genomic ancestry in the Brasilian population, Minas Gerais
- 27/1174 (+ 3 heterozygous for RHef00447 and RHef00452) donors with D negative phenotype United States population (Los Angeles)
- 2/526 among donors with D negative phenotype, C and/or E positive, tested for presence of the RHD gene in the Argentinean population (Northwestern Argentina)
- 48/1403 1043 donors with D negative phenotype, among 10417 random donors, were screened for RHD gene in the Brazilian population, Sao Paolo
- 15/517 in a population of 67428 random donors, 8042 had D negative phenotype, among those, 517 were C and/or E positive and were screened for RHD gene in the Brazilian population (Sao Paolo)
- 27/18537 18537 donors with D negative phenotype, tested for the presence of RHD DNA sequences, 154 samples were positive for one or several RHD exons in the Swiss population
- 1/185 RH:–1,–4 or RH:–1,–5 recipients reported by a French lab
- 1 sample (in trans with RHef00172) in the USA population
- 13/3147 3147 donors with D negative phenotype, screened for RHD intron 3/intron 4, exon 7 and 3'UTR specific sequences, 36 were positive in Portuguese population (mainly central Portugal)
- 33/136000 among about 136.000 donors with D negative phenotype, systematically tested for the presence of the RHD gene; the RHD gene was detected in 300 donors in the German population (some samples may overlap with other studies)
-
8/46,756 first time donors with D negative phenotype, tested for RHD exon 7 and adsorption-elution with a polyclonal anti-D in the German population (Northern)
(overlaps with
999999913 ; some samples may overlap with full publications) (overlaps with999999988 ; some samples may overlap with19243542 ) - 4/4000 D negative repeat donors genotyped for RHD, of which 13 had an RHD allele in Canadian (Quebec) population
- 7 heterozygotes among 278 samples selected for the development of nonspecific quantitative next-generation sequencing. (non-random samples, may have been reported in other studies)
Allele or phenotype frequency
- 0.0714 estimated allele frequency from testing 98 random donors (3 had D negative phenotype) Black South African
- 1/37431 (CI: 1/7032 - 1/733950) estimated allele frequency by testing 8442 donors with D negative phenotype, screened for presence of the RHD gene in two surveys; 754 donors were C and/or E positive, the rest were ccee phenotype; 5 donors were revealed to be weakly D positive in the German population (Baden-Wurttemberg)
- 0.065 estimated haplotype frequency Malian
- 1/7776 (CI: 1/3012 - 1/28571) estimated allele frequency in individuals with D negative phenotype in the Austrian population, Upper Austria
- 0.2056 theoretical allele frequency in individuals with D negative phenotype Congolese (from the city of Brazzaville)
- 0.0022 estimated allele frequency in individuals with D negative phenotype in the Tunisian population
- 0.031 allele frequency among 480 African American donors African American (in the USA population)
- 0.043 allele frequency among 140 SCD patients African American (in the USA population)
- 0.01 - 0.02 allele frequency from molecular typing of 46 random samples Fulani Malian
- 0.034 allele frequency from molecular typing of 101 random samples Dogon Malian
- 0.009 allele frequency in 58 patients with weak D phenotype Brazilian (mixed origin, mainly between African and European descent)
- 0.014 allele frequency in 106 donors with weak D phenotype Brazilian (mixed origin, mainly between African and European descent)
- 1/43 (CI: 1/66 - 1/30) estimated allele frequency in donors with D negative phenotype United States population (Los Angeles)
Structure mapping
Movement | Mouse Input | Touch Input | ||
---|---|---|---|---|
Rotation | Primary Mouse Button | Single touch | ||
Translation | Middle Mouse Button or Ctrl+Primary | Triple touch | ||
Zoom | Scroll Wheel or Second Mouse Button or Shift+Primary | Pinch (double touch) | ||
Slab | Ctrl+Second | Not Available |
References
- International Society of Blood Transfusion et al. International Society of Blood Transfusion (ISBT) allele table Online ressource, 1935. — Online ressource — [RHeference]
- Singleton BK et al. The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in africans with the Rh D-negative blood group phenotype. Blood, 2000. [Citation] [RHeference]
- Wagner FF et al. RHD positive haplotypes in D negative Europeans. BMC Genet, 2001. [Citation] [RHeference]
- Wagner FF et al. The DAU allele cluster of the RHD gene. Blood, 2002. [Citation] [RHeference]
- Rodrigues A et al. Presence of the RHD pseudogene and the hybrid RHD-CE-D(s) gene in Brazilians with the D-negative phenotype. Braz J Med Biol Res, 2002. [Citation] [RHeference]
- Ekman GC et al. Rh genotyping: avoiding false-negative and false-positive results among individuals of African ancestry. Am J Hematol, 2002. [Citation] [RHeference]
- Wagner FF et al. RHD allele distribution in Africans of Mali. BMC Genet, 2003. [Citation] [RHeference]
- Grootkerk-Tax MG et al. RHD(T201R, F223V) cluster analysis in five different ethnic groups and serologic characterization of a new Ethiopian variant DARE, the DIII type 6, and the RHD(F223V). Transfusion, 2006. [Citation] [RHeference]
- Flegel WA et al. How I manage donors and patients with a weak D phenotype. Curr Opin Hematol, 2006. [Citation] [RHeference]
- Pereira JC et al. Prenatal determination of the fetal RhD blood group by multiplex PCR: a 7-year Portuguese experience. Prenat Diagn, 2007. [Citation] [RHeference]
- Müller SP et al. The determination of the fetal D status from maternal plasma for decision making on Rh prophylaxis is feasible. Transfusion, 2008. [Citation] [RHeference]
- Flegel WA et al. D variants at the RhD vestibule in the weak D type 4 and Eurasian D clusters. Transfusion, 2009. [Citation] [RHeference]
- Polin H et al. Identification of RHD alleles with the potential of anti-D immunization among seemingly D- blood donors in Upper Austria. Transfusion, 2009. [Citation] [RHeference]
- J. Pereira et al. RHD Null Alleles in the Portuguese Population Transfusion Medicine, 2009. — Abstract — [RHeference]
- Flegel WA et al. Six years' experience performing RHD genotyping to confirm D- red blood cell units in Germany for preventing anti-D immunizations. Transfusion, 2009. [Citation] [RHeference]
- Touinssi M et al. Molecular analysis of inactive and active RHD alleles in native Congolese cohorts. Transfusion, 2009. [Citation] [RHeference]
- Westhoff CM et al. DIIIa and DIII Type 5 are encoded by the same allele and are associated with altered RHCE*ce alleles: clinical implications. Transfusion, 2010. [Citation] [RHeference]
- Stabentheiner S et al. Overcoming methodical limits of standard RHD genotyping by next-generation sequencing. Vox Sang, 2011. [Citation] [RHeference]
- Wagner FF and Flegel WA et al. The Human RhesusBase Online ressource, 2011. — Online ressource — [RHeference]
- Silvy M et al. Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles. Transfusion, 2011. [Citation] [RHeference]
- Szulman A et al. Investigation of pseudogenes RHDΨ and RHD-CE-D hybrid gene in D-negative blood donors by the real time PCR method. Transfus Apher Sci, 2012. [Citation] [RHeference]
- Wagner FF et al. RHD PCR of blood donors in Northern Germany: use of adsorption/elution to determine D antigen status Vox Sanguinis, 2012. — Abstract — [RHeference]
- Cruz BR et al. RHD alleles in Brazilian blood donors with weak D or D-negative phenotypes. Transfus Med, 2012. [Citation] [RHeference]
- Moussa H et al. Molecular background of D-negative phenotype in the Tunisian population. Transfus Med, 2012. [Citation] [RHeference]
- F F Wagner et al. Single Adsorption / Elution with Anti-D May Be Insufficient to Determine the D Antigen Status of Very Weak DEL Alleles Transfusion, 2012. — Abstract — [RHeference]
- St-Louis R et al. DEL Blood donors alloimmunised patients: the Canadian experience Vox Sanguinis, 2012. — Abstract — [RHeference]
- Mota M et al. RHD allelic identification among D-Brazilian blood donors as a routine test using pools of DNA. J Clin Lab Anal, 2012. [Citation] [RHeference]
- Daniels G et al. Variants of RhD--current testing and clinical consequences. Br J Haematol, 2013. [Citation] [RHeference]
- Haer-Wigman L et al. RHD and RHCE variant and zygosity genotyping via multiplex ligation-dependent probe amplification. Transfusion, 2013. [Citation] [RHeference]
- Chou ST et al. High prevalence of red blood cell alloimmunization in sickle cell disease despite transfusion from Rh-matched minority donors. Blood, 2013. [Citation] [RHeference]
- O'Suoji C et al. Alloimmunization in sickle cell anemia in the era of extended red cell typing. Pediatr Blood Cancer, 2013. [Citation] [RHeference]
- Fichou Y et al. A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes. Transfusion, 2013. [Citation] [RHeference]
- Lejon Crottet S et al. Serologic and molecular investigations of DAR1 (weak D Type 4.2), DAR1.2, DAR1.3, DAR2 (DARE), and DARA. Transfusion, 2013. [Citation] [RHeference]
- Granier T et al. A comprehensive survey of both RHD and RHCE allele frequencies in sub-Saharan Africa. Transfusion, 2013. [Citation] [RHeference]
- Arnoni CP et al. How do we identify RHD variants using a practical molecular approach? Transfusion, 2014. [Citation] [RHeference]
- Crottet SL et al. Implementation of a mandatory donor RHD screening in Switzerland. Transfus Apher Sci, 2014. [Citation] [RHeference]
- Reid ME et al. Genomic analyses of RH alleles to improve transfusion therapy in patients with sickle cell disease. Blood Cells Mol Dis, 2014. [Citation] [RHeference]
- Kappler-Gratias S et al. Systematic RH genotyping and variant identification in French donors of African origin. Blood Transfus, 2014. [Citation] [RHeference]
- Trucco Boggione C et al. Molecular structures identified in serologically D- samples of an admixed population. Transfusion, 2014. [Citation] [RHeference]
- Gowland P et al. Molecular RHD screening of RhD negative donors can replace standard serological testing for RhD negative donors. Transfus Apher Sci, 2014. [Citation] [RHeference]
- Kacem N et al. Paternal RHD zygosity determination in Tunisians: evaluation of three molecular tests. Blood Transfus, 2015. [Citation] [RHeference]
- Ogasawara K et al. Molecular basis for D- Japanese: identification of novel DEL and D- alleles. Vox Sang, 2015. [Citation] [RHeference]
- Ba A et al. RH diversity in Mali: characterization of a new haplotype RHD*DIVa/RHCE*ceTI(D2). Transfusion, 2015. [Citation] [RHeference]
- Srivastava K et al. The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens. Transfusion, 2016. [Citation] [RHeference]
- Stegmann TC et al. Frequency and characterization of known and novel RHD variant alleles in 37 782 Dutch D-negative pregnant women. Br J Haematol, 2016. [Citation] [RHeference]
- C Henny et al. Impact of the mandatory donor RHD screening in Switzerland Vox Sanguinis, 2016. — Abstract — [RHeference]
- Zacarias JM et al. Frequency of RHD variants in Brazilian blood donors from Parana State, Southern Brazil. Transfus Apher Sci, 2016. [Citation] [RHeference]
- Boggione CT et al. Genotyping approach for non-invasive foetal RHD detection in an admixed population. Blood Transfus, 2017. [Citation] [RHeference]
- Hyland CA et al. Non-invasive fetal RHD genotyping for RhD negative women stratified into RHD gene deletion or variant groups: comparative accuracy using two blood collection tube types. Pathology, 2017. [Citation] [RHeference]
- Dezan MR et al. RHD and RHCE genotyping by next-generation sequencing is an effective strategy to identify molecular variants within sickle cell disease patients. Blood Cells Mol Dis, 2017. [Citation] [RHeference]
- S Vege et al. Serologic Characterization of D Antigen Expression Encoded By Two Reported RHD Alleles: Implications for Transfusion and Pregnancy Transfusion, 2017. — Abstract — [RHeference]
- Chou ST et al. Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia. Blood Adv, 2017. [Citation] [RHeference]
- Dezan MR et al. Evaluation of the applicability and effectiveness of a molecular strategy for identifying weak D and DEL phenotype among D- blood donors of mixed origin exhibiting high frequency of RHD*Ψ. Transfusion, 2018. [Citation] [RHeference]
- Dezan MR et al. High frequency of variant RHD genotypes among donors and patients of mixed origin with serologic weak-D phenotype. J Clin Lab Anal, 2018. [Citation] [RHeference]
- Jérôme Babinet et al. Erratum à l’article : « Résumés des Posters » [Transfus. Clin. Biol. 24 (2017) 3S] Transfusion Clinique et Biologique, 2018. — Abstract — [RHeference]
- Wagner F. et al. Results of more than ten years testing of RhD negative first time donors by RHD PCR Transfus Med Hemother, 2019. — Abstract — [RHeference]
- de Paula Vendrame TA et al. Characterization of RHD alleles present in serologically RHD-negative donors determined by a sensitive microplate technique. Vox Sang, 2019. [Citation] [RHeference]
- Trucco Boggione C et al. Characterization of RHD locus polymorphism in D negative and D variant donors from Northwestern Argentina. Transfusion, 2019. [Citation] [RHeference]
- Silva-Malta MCF et al. Molecular analysis of the RHD pseudogene by duplex real-time polymerase chain reaction. Transfus Med, 2019. [Citation] [RHeference]
- Perez-Alvarez I et al. RHD genotyping of serologic RhD-negative blood donors in a hospital-based blood donor center. Transfusion, 2019. [Citation] [RHeference]
- Stef M et al. RH genotyping by nonspecific quantitative next-generation sequencing. Transfusion, 2020. [Citation] [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
Last update: Jan. 8, 2021